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rs273900718

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;G) 6 BRCA1 variant considered pathogenic for breast cancer
(G;G) 0 common in clinvar


Make rs273900718(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091669
GeneBRCA1
is asnp
is mentioned by
dbSNPrs273900718
ClinGenrs273900718
ebirs273900718
HLIrs273900718
Exacrs273900718
Varsomers273900718
Maprs273900718
PheGenIrs273900718
hapmaprs273900718
1000 genomesrs273900718
hgdprs273900718
ensemblrs273900718
gopubmedrs273900718
geneviewrs273900718
scholarrs273900718
googlers273900718
pharmgkbrs273900718
gwascentralrs273900718
openSNPrs273900718
23andMers273900718
23andMe allrs273900718
SNP Nexus

SNPshotrs273900718
SNPdbers273900718
MSV3drs273900718
GWAS Ctlgrs273900718
Max Magnitude6
rs273900718, also known as 3981delG, c.3862_3862delG and p.Glu1288Lysfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs273900718(-;-)
Alt rs273900718(-;-)
Reference Rs273900718(G;G)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243686delC
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048360.2, RCV000112204.2,